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Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder
Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B(12) metabolism caused by mutations in the MMACHC gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin and oral...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463060/ https://www.ncbi.nlm.nih.gov/pubmed/32905057 http://dx.doi.org/10.1002/jmd2.12145 |